IthaID: 52


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 3 (+T) HGVS Name: HBB:c.11dupT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
ACCTCAAACAGACACCATGGTGCATCT [-/T] GACTCCTGAGGAGAAGTCTGCCGTTA (Strand: -)

Also known as:

Comments: Found in three chromosomes among Turkish patients from Antalya. The insertion of a nt T in codon 3 creates a shift in the reading frame with a premature stop codon at codon 6 (TGA).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70605
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Turkish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Keser I, Sanlioglu AD, Manguoglu E, Guzeloglu Kayisli O, Nal N, Sargin F, Yesilipek A, Simsek M, Mendilcioglu I, Canatan D, Luleci G, Molecular analysis of beta-thalassemia and sickle cell anemia in Antalya., Acta haematologica, 111(4), 205-10, 2004
Created on 2010-06-16 16:13:14, Last reviewed on 2019-11-13 16:09:12 (Show full history)

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